C1189R (p.Cys1189Arg) variant of KMT2A (Q03164)
C1189R (p.Cys1189Arg) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Wiedemann-Steiner syndrome. The record also includes variant effect predictions.
C1189R (p.Cys1189Arg) variant details
- p.Cys1189Arg
- rs886041875
- ClinGen CA10603134
- ClinVar RCV000354494
- ClinVar RCV001328711
- Pathogenic
- not provided; Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (not provided; Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic